Navigation Links
Enzyme Responsible For Congenital Blindness

Researchers from UCLA had found out that a deficient gene that is also responsible for the presence of an enzyme in the vision cycle that causes congenital blindness in children. The researchers’ study regarding the congenital blinding disease // called Leber congenital amaurosis is published in the August issue of the journal Cell.

Researchers suggest that replacement of RPE65, which is lacking in these patients, by gene therapy should correct the blindness in these children, as was observed in mice and dogs with RPE65 mutations, said the researchers. This is a major breakthrough in understanding the visual cycle. It has ramifications for several inherited blinding diseases caused by mutations in visual cycle genes.

The newly identified isomerase enzyme plays a crucial role in the regeneration of rhodopsin visual pigment in the retina after light exposure. Rhodopsin contains a light-absorbing molecule called 11 cis retinaldehyde, related to vitamin A, which is converted upon light absorption to all trans retinaldehyde in a process called photo bleaching. This conversion is the first step in visual perception.

Photo bleaching leaves the rhodopsin insensitive to light until the all trans retinaldehyde is converted, or "isomerized," back into 11 cis retinaldehyde, which completes the visual cycle. Scientists have for two decades been attempting to identify the retinoid isomerase enzyme that catalyzes this regeneration of 11 cis retinaldehyde. Scientists have also been stumped by the function of the Rpe65 protein

The researchers had performed an expression screen in cultured human cells, looking for a gene that caused these cells to convert vitamin A into 11 cis retinol.

The researchers are now studying the effects on retinoid isomerase activity of specific disease causing mutations in the RPE65 gene, which should provide more data on the cause of Leber congenital amaurosis and on how the Rpe65 protein works. The researchers are also examining the function of other proteins that work closely with Rpe65. Mutations in the genes for these interacting proteins are linked to other forms of human blindness.

Source: Newswise
'"/>




Related medicine news :

1. Enzyme may be target for obesity drugs
2. Researchers trick Alzheimers Enzyme
3. Enzyme stimulates growth of adult stem cells
4. Enzyme may aid hold back disease
5. Enzyme help destroy cancer cell
6. Enzyme Associated with Memory
7. Enzyme Associated With Memory
8. Brain Enzyme Found To Regulate Weight
9. New Enzyme Identified For Arthritis
10. Enzyme for treatment of arthritis
11. An Enzyme That Turns a One –time Experience into a long-time Memor
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:1/24/2017)... ... January 24, 2017 , ... Attention women who want bigger ... that autologous fat grafting—taking one’s own fat and putting it in other body ... , Cosmetic Surgeon and Medical Director of MilfordMD Cosmetic Dermatology Surgery & Laser ...
(Date:1/24/2017)... (PRWEB) , ... January 23, 2017 , ... ... the following statement on the imposition of the Mexico City Policy, also known ... policy, enacted again today through Executive action, prohibits foreign non-governmental organizations from receiving ...
(Date:1/24/2017)... ... January 23, 2017 , ... ... support them, Dr. Carol Francis, Psychologist in the South Bay area , ... respectful governing for all people and by all people shines as a bright ...
(Date:1/23/2017)... ... January 23, 2017 , ... PKF O’Connor Davies , LLP, the nation’s ... accountant at the Firm, will participate in the 40th Annual "Empire State Building Run ... race up 1,576 steps, a vertical distance equal to about a fifth of a ...
(Date:1/23/2017)... ... January 23, 2017 , ... The ... standards for healthcare treatment providers who treat the full spectrum of eating disorder ... , The Presidents Council consists of the leading eating disorder treatments centers located ...
Breaking Medicine News(10 mins):
(Date:1/23/2017)... Calif. , Jan. 23, 2017  HOPE ... exclusive rights to develop and commercialize nuc ... Therapeutics, a Korean pharmaceutical company. ... DNA aptamer against surface nucleolin found on many ... gemcitabine. Unlike ADCs (antibody drug conjugates) or SMDCs ...
(Date:1/23/2017)... YORK , Jan. 23, 2017 Consolidated ... Partners and Driving the Stability Testing Outsourcing Market ... market addresses market sizing, emerging trends, and technologies, and ... market. The base year is 2015 and forecasts are ... is expected to grow at a CAGR of 9.4% ...
(Date:1/23/2017)... 2017 MouthWatch LLC announced today that its flagship ... the best intraoral camera on DentalCompare,s list of Top ... The #1 product was the CollaPlug Absorbable Collagen Wound ... was "…incredibly popular because it is by far the most ... sticker price, it doesn,t sacrifice quality imaging." ...
Breaking Medicine Technology: